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Article

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

The Journal of investigative dermatology - 1 Nov 2002

Nguyen Thuyen, Novak Edward K, Kermani Maryam, Fluhr Joachim, Peters Luanne L, Swank Richard T, Wei Maria L

Abstract excerpt

Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome. Some of the genes are implicated in intracellular vesicle trafficking: budding, targeting, and secretion. Many of the Hermansky-Pudlak syndrome genes remain uncharacterized and their functions are...

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Identifiers

PMID: 12445206
DOI: 10.1046/j.1523-1747.2002.19535.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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